NM_006323.5(SEC24B):c.2999T>A (p.Leu1000Ter) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 16, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003233355.1

Allele description [Variation Report for NM_006323.5(SEC24B):c.2999T>A (p.Leu1000Ter)]

NM_006323.5(SEC24B):c.2999T>A (p.Leu1000Ter)

Gene:

SEC24B:SEC24 homolog B, COPII coat complex component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q25

Genomic location:

Preferred name:

NM_006323.5(SEC24B):c.2999T>A (p.Leu1000Ter)

HGVS:

NC_000004.12:g.109527355T>A
NG_032166.1:g.98541T>A
NM_001042734.4:c.2894T>A
NM_001300813.3:c.3089T>A
NM_001318085.2:c.2996T>A
NM_001318086.2:c.2891T>A
NM_006323.5:c.2999T>AMANE SELECT
NP_001036199.1:p.Leu965Ter
NP_001287742.1:p.Leu1030Ter
NP_001305014.1:p.Leu999Ter
NP_001305015.1:p.Leu964Ter
NP_006314.2:p.Leu1000Ter
NC_000004.11:g.110448511T>A

Protein change:

L1000*

Molecular consequence:

NM_001042734.4:c.2894T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001300813.3:c.3089T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001318085.2:c.2996T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001318086.2:c.2891T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_006323.5:c.2999T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003932138	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 16, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003932138

Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 16, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV003932138.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Gene of Uncertain Significance

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2023

ClinVar

Relating variation to medicine